{
    "disease_id": "DOID:0061110",
    "recommended_name": {
        "id": "DOID:0061110",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0061110",
        "name": "retinitis pigmentosa 97",
        "description": "A retinitis pigmentosa characterized by onset of night blindness and visual field defects in the first decade of life, with later onset of reduced visual acuity that has_material_basis_in heterozygous mutation in the VWA8 gene on chromosome 13q14."
    },
    "synonyms": [
        {
            "id": "DOID:0061110",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0061110",
            "name": "RP97",
            "description": ""
        },
        {
            "id": "MONDO:0957314",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957314",
            "name": "retinitis pigmentosa 97",
            "description": ""
        },
        {
            "id": "MIM:620422",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620422",
            "name": "Retinitis pigmentosa 97",
            "description": "Retinitis pigmentosa 97"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061110"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061110",
            "database": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0061110",
            "categories": []
        },
        {
            "id": "MONDO:0957314",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957314",
            "categories": []
        },
        {
            "id": "MIM:620422",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620422",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A3KMH1-1",
            "uniprot_ac": "A3KMH1",
            "uniprot_id": "VWA8_HUMAN",
            "refseq_ac": "NP_001009814",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "von Willebrand factor A domain-containing protein 8",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "P7BP2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "PEX7-binding protein 2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "von Willebrand factor A domain-containing protein 8 isoform b precursor",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "von Willebrand factor A domain-containing protein 8; PEX7-binding protein 2; Pex7p-binding protein 2",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "VWA8",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "KIAA0564; P7BP2; RP97",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0564",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "VWA8",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "620422",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620422"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061110"
}